Van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures

American Journal of Medical Genetics

Volumn 136 A, Issue 4, 2005, Pages 377-380

  Guerra, Dania ^a   Sanchez, Otto ^a   Richieri Costa, Antonio ^b  

^a Universidad de Oriente Nucleo Bolivar   (Venezuela)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Autosomal recessive inheritance; Hallux valgus; Malar hypoplasia; Narrow nose; Prominent ears

Indexed keywords

ARACHNODACTYLY; AUTOSOMAL RECESSIVE DISORDER; BLEPHAROPHIMOSIS; CASE REPORT; CLINICAL FEATURE; CLUBFOOT; CONTRACTURE; HUMAN; MALE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; REVIEW; SCHOOL CHILD; SKELETON RADIOGRAPHY; SYNDROME; VAN DEN ENDE GUPTA SYNDROME; VENEZUELA;

ABNORMALITIES, MULTIPLE; BLEPHAROPHIMOSIS; CHILD; CONTRACTURE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; MARFAN SYNDROME; SYNDROME;

VALGUS;

EID: 23044470390     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30665     Document Type: Review

References (5)

1. Bistritzer T, Fried K, Lahat E, Dvir M, Goldberg M. 1993. Congenital contractural arachnodactyly in two double second cousins: Possible homozygosity. Clin Genet 44:15-19.
2. Gupta A, Hall CM, Ransley YF, Murday VA. 1995. A new autosomal recessive syndrome of characteristic fades, joint contractures, skeletal abnormalities, and normal development: Second report with further clinical delineation. J Med Genet 3:809-812.
3. Phadke SR, Gulati R, Awargal SS. 1998. Further delineation of a new (van den Ende-Gupta) syndrome of blepharophimosis, contractural arachnodactyly, and characteristic face. Am J Med Genet 77:16-18.
4. Schweitzer DN, Lachman RS, Pressman BD, Graham JM Jr. 2003. van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: Clinical delineation and recurrence in brothers. Am J Med Genet 118A:267-273.
5. van Den Ende JJ, Van Bever Y, Rodini ESO, Richieri-Costa A. 1992. Marden-Walker like syndrome without psychomotor retardation: Report of a Brazilian girl born to consanguineous parents. Am J Med Genet 42:467-469.